Abstract
The muscular dystrophies (MD) are a group of genetic disorders causing deterioration of normal muscle structure. Although MD principally affect skeletal muscles, many forms of MD also affect the heart, smooth muscle, brain, eye, gastrointestinal tract, and reproductive and endocrine systems. The heterogeneity between and within different subtypes of muscular dystrophy causes challenges in genetic diagnosis and prognosis. Many genetic phenomena, such as anticipation, germline mosaicism, and pleiotropy, can be seen in these conditions. This section discusses the clinical presentation, genetics, and genetic counseling issues of several forms of adult muscular dystrophy.
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Dalton, J., Sampson, J.B. (2015). Overview of Adult Muscular Dystrophies. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_18
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DOI: https://doi.org/10.1007/978-1-4899-7482-2_18
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